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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:CYP2C18-HELLS (FusionGDB2 ID:21045)

Fusion Gene Summary for CYP2C18-HELLS

Fusion gene summary

Fusion gene information	Fusion gene name: CYP2C18-HELLS
	Fusion gene ID: 21045
		Hgene	Tgene
	Gene symbol	CYP2C18	HELLS
	Gene ID	1562	3070
	Gene name	cytochrome P450 family 2 subfamily C member 18	helicase, lymphoid specific
	Synonyms	CPCI\|CYP2C\|CYP2C17\|P450-6B/29C\|P450IIC17	ICF4\|LSH\|Nbla10143\|PASG\|SMARCA6
	Cytomap	10q23.33	10q23.33
	Type of gene	protein-coding	protein-coding
	Description	cytochrome P450 2C18(S)-mephenytoin hydroxylase associated cytochrome P450CYPIIC18cytochrome P450, family 2, subfamily C, polypeptide 18cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 17cytochrome P450, subfamily IIC (mephenyt	lymphoid-specific helicaseSWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6proliferation-associated SNF2-like protein
	Modification date	20200313	20200322
	UniProtAcc	.	Q9NRZ9
	Ensembl transtripts involved in fusion gene	ENST00000285979, ENST00000339022,	ENST00000239026, ENST00000394044, ENST00000462057, ENST00000348459, ENST00000371332, ENST00000394036, ENST00000394045,
Fusion gene scores	* DoF score	1 X 2 X 1=2	10 X 8 X 3=240
	# samples	2	11
	** MAII score	log2(2/2*10)=3.32192809488736	log2(11/240*10)=-1.12553088208386 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CYP2C18 [Title/Abstract] AND HELLS [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CYP2C18(96466717)-HELLS(96331145), # samples:5
Anticipated loss of major functional domain due to fusion event.	CYP2C18-HELLS seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. CYP2C18-HELLS seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	CYP2C18	GO:0042573	retinoic acid metabolic process	11093772

Fusion gene breakpoints across CYP2C18 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across HELLS (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	LIHC	TCGA-BC-A8YO-01A	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
ChimerDB4	LIHC	TCGA-ZS-A9CF-01A	CYP2C18	chr10	96466717	-	HELLS	chr10	96331145	+
ChimerDB4	LIHC	TCGA-ZS-A9CF-01A	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
ChimerDB4	LIHC	TCGA-ZS-A9CF-02A	CYP2C18	chr10	96466717	-	HELLS	chr10	96331145	+
ChimerDB4	LIHC	TCGA-ZS-A9CF-02A	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+

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Fusion Gene ORF analysis for CYP2C18-HELLS

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-3UTR	ENST00000285979	ENST00000239026	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
5CDS-3UTR	ENST00000285979	ENST00000239026	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
5CDS-3UTR	ENST00000285979	ENST00000394044	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
5CDS-3UTR	ENST00000285979	ENST00000394044	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
5CDS-3UTR	ENST00000339022	ENST00000239026	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
5CDS-3UTR	ENST00000339022	ENST00000394044	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
5CDS-intron	ENST00000285979	ENST00000462057	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
5CDS-intron	ENST00000285979	ENST00000462057	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
5CDS-intron	ENST00000339022	ENST00000462057	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
Frame-shift	ENST00000285979	ENST00000348459	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
Frame-shift	ENST00000285979	ENST00000371332	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
Frame-shift	ENST00000285979	ENST00000394036	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
Frame-shift	ENST00000285979	ENST00000394036	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
Frame-shift	ENST00000285979	ENST00000394045	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
Frame-shift	ENST00000339022	ENST00000348459	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
Frame-shift	ENST00000339022	ENST00000371332	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
Frame-shift	ENST00000339022	ENST00000394036	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
Frame-shift	ENST00000339022	ENST00000394045	CYP2C18	chr10	96493195	+	HELLS	chr10	96331145	+
In-frame	ENST00000285979	ENST00000348459	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
In-frame	ENST00000285979	ENST00000371332	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
In-frame	ENST00000285979	ENST00000394045	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
intron-3CDS	ENST00000339022	ENST00000348459	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
intron-3CDS	ENST00000339022	ENST00000371332	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
intron-3CDS	ENST00000339022	ENST00000394036	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
intron-3CDS	ENST00000339022	ENST00000394045	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
intron-3UTR	ENST00000339022	ENST00000239026	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
intron-3UTR	ENST00000339022	ENST00000394044	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+
intron-intron	ENST00000339022	ENST00000462057	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

ENST00000285979

CYP2C18

chr10

96466717

ENST00000394045

HELLS

chr10

96331145

3282

1018

199

2805

868

ENST00000285979

CYP2C18

chr10

96466717

ENST00000348459

HELLS

chr10

96331145

3577

1018

199

3099

966

ENST00000285979

CYP2C18

chr10

96466717

ENST00000371332

HELLS

chr10

96331145

3238

1018

199

3237

1013

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000285979	ENST00000394045	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+	0.000191914	0.99980813
ENST00000285979	ENST00000348459	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+	0.000110872	0.99988914
ENST00000285979	ENST00000371332	CYP2C18	chr10	96466717	+	HELLS	chr10	96331145	+	0.000158149	0.9998418

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Fusion Genomic Features for CYP2C18-HELLS

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
CYP2C18	chr10	96493195	+	HELLS	chr10	96331144	+	5.65E-05	0.9999435
CYP2C18	chr10	96466717	+	HELLS	chr10	96331144	+	1.88E-08	1
CYP2C18	chr10	96466717	+	HELLS	chr10	96331144	+	1.88E-08	1
CYP2C18	chr10	96493195	+	HELLS	chr10	96331144	+	5.65E-05	0.9999435
CYP2C18	chr10	96466717	+	HELLS	chr10	96331144	+	1.88E-08	1
CYP2C18	chr10	96466717	+	HELLS	chr10	96331144	+	1.88E-08	1

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CYP2C18-HELLS

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:96466717/chr10:96331145)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	HELLS Q9NRZ9
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity). {ECO:0000250\|UniProtKB:Q60848}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000348459

235_403

145

839.0

Domain

Helicase ATP-binding

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000348459

603_767

145

839.0

Domain

Helicase C-terminal

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394036

235_403

123

338.3333333333333

Domain

Helicase ATP-binding

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394036

603_767

123

338.3333333333333

Domain

Helicase C-terminal

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394044

235_403

145

316.0

Domain

Helicase ATP-binding

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394044

603_767

145

316.0

Domain

Helicase C-terminal

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394045

235_403

145

741.0

Domain

Helicase ATP-binding

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394045

603_767

145

741.0

Domain

Helicase C-terminal

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000348459

354_357

145

839.0

Motif

DEAH box

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394036

354_357

123

338.3333333333333

Motif

DEAH box

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394044

354_357

145

316.0

Motif

DEAH box

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394045

354_357

145

741.0

Motif

DEAH box

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000348459

248_255

145

839.0

Nucleotide binding

ATP

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394036

248_255

123

338.3333333333333

Nucleotide binding

ATP

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394044

248_255

145

316.0

Nucleotide binding

ATP

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394045

248_255

145

741.0

Nucleotide binding

ATP

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000348459

30_115

145

839.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394036

30_115

123

338.3333333333333

Coiled coil

Ontology_term=ECO:0000255

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394044

30_115

145

316.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

HELLS

chr10:96466717

chr10:96331145

ENST00000394045

30_115

145

741.0

Coiled coil

Ontology_term=ECO:0000255

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Fusion Gene Sequence for CYP2C18-HELLS

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>21045_21045_1_CYP2C18-HELLS_CYP2C18_chr10_96466717_ENST00000285979_HELLS_chr10_96331145_ENST00000348459_length(transcript)=3577nt_BP=1018nt
GGCACCGGAAAGAACAAGAAAAAAGAACACCTTATTTTTATCTTCTTCAGTGAGCCAATGTTCATTCAAAAGAGAGATTAAAGTGCTTTT
TGCTGACTAGTCACAGTCAGAGTCAGAATCACAGGTGGATTAGTAGGGAGTGTTATAAAAGCCTTGAAGTGAAAGCCCGCAGTTGTCTTA
CTAAGAAGAGAAGCCTTCAATGGATCCAGCTGTGGCTCTGGTGCTCTGTCTCTCCTGTTTGTTTCTCCTTTCACTCTGGAGGCAGAGCTC
TGGAAGAGGGAGGCTCCCGTCTGGCCCCACTCCTCTCCCGATTATTGGAAATATCCTGCAGTTAGATGTTAAGGACATGAGCAAATCCTT
AACCAATTTCTCAAAAGTCTATGGCCCTGTGTTCACTGTGTATTTTGGCCTGAAGCCCATTGTGGTGTTGCATGGATATGAAGCAGTGAA
GGAGGCCCTGATTGATCATGGAGAGGAGTTTTCTGGAAGAGGAAGTTTTCCAGTGGCTGAAAAAGTTAACAAAGGACTTGGAATCCTTTT
CAGCAATGGAAAGAGATGGAAGGAGATCCGGCGTTTCTGCCTCATGACTCTGCGGAATTTTGGGATGGGGAAGAGGAGCATCGAGGACCG
TGTTCAAGAGGAAGCCCGCTGCCTTGTGGAGGAGTTGAGAAAAACCAATGCCTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCC
CTGCAATGTGATCTGCTCTGTTATTTTCCATGATCGATTTGATTATAAAGATCAGAGGTTTCTTAACTTGATGGAAAAATTCAATGAAAA
CCTCAGGATTCTGAGCTCTCCATGGATCCAGGTCTGCAATAATTTCCCTGCTCTCATCGATTATCTCCCAGGAAGTCATAATAAAATAGC
TGAAAATTTTGCTTACATTAAAAGTTATGTATTGGAGAGAATAAAAGAACATCAAGAATCCCTGGACATGAACAGTGCTCGGGACTTTAT
TGATTGTTTCCTGATCAAAATGGAACAGGAAATTTTGTCTGTGGCTAAAAAAAATAAAAAGGAGAATGAGGATGAAAACTCCTCCTCTAC
TAATCTCTGTGTGGAAGATCTTCAGAAAAATAAAGATTCGAATAGTATAATTAAAGATAGATTGTCTGAAACGGTTAGGCAGAATACTAA
ATTCTTTTTTGACCCAGTCCGGAAGTGTAATGGTCAGCCAGTACCTTTTCAACAACCAAAGCACTTCACTGGAGGAGTGATGCGATGGTA
CCAAGTAGAAGGCATGGAATGGCTTAGGATGCTTTGGGAAAATGGAATTAATGGCATTTTAGCAGATGAAATGGGATTGGGTAAGACAGT
TCAGTGCATTGCTACTATTGCATTGATGATTCAGAGAGGAGTACCAGGACCTTTTCTTGTCTGTGGCCCTTTGTCTACACTTCCTAACTG
GATGGCTGAATTCAAAAGATTTACACCAGATATCCCTACAATGTTATATCATGGAACCCAGGAGGAACGTCAAAAATTGGTAAGAAATAT
TTACAAACGGAAAGGGACTTTGCAGATTCATCCTGTGGTAATCACGTCATTTGAAATAGCCATGAGAGACCGAAATGCGTTACAGCATTG
CTATTGGAAATACTTAATAGTAGATGAAGGACACAGGATTAAGAATATGAAGTGCCGTCTAATCAGGGAGTTAAAACGATTCAATGCTGA
TAACAAACTTCTTTTGACTGGTACTCCCTTGCAAAACAATTTATCAGAACTTTGGTCATTGCTAAACTTTTTGTTGCCAGATGTATTTGA
TGACTTGAAAAGCTTTGAGTCTTGGTTTGACATCACTAGTCTTTCTGAAACTGCTGAAGATATTATTGCTAAAGAAAGAGAACAGAATGT
ATTGCATATGCTGCACCAGATTTTAACACCTTTCTTATTGAGAAGACTGAAGTCTGATGTTGCTCTTGAAGTTCCTCCTAAACGAGAAGT
AGTCGTTTATGCTCCACTTTCAAAGAAGCAGGAGATCTTTTATACAGCCATTGTGAACCGTACAATTGCAAACATGTTTGGATCCAGTGA
GAAAGAAACAATTGAGTTAAGTCCTACTGGTCGACCAAAACGACGAACTAGAAAATCAATAAATTACAGCAAAATAGATGATTTCCCTAA
TGAATTGGAAAAACTGATCAGTCAAATACAGCCAGAGGTGGACCGAGAAAGAGCTGTTGTGGAAGTGAATATCCCTGTAGAATCTGAAGT
TAATCTGAAGCTGCAGAATATAATGATGCTACTTCGTAAATGTTGTAATCATCCATATTTGATTGAATATCCTATAGACCCTGTTACACA
AGAATTTAAGATCGATGAAGAATTGGTAACAAATTCTGGGAAGTTCTTGATTTTGGATCGAATGCTGCCAGAACTAAAAAAAAGAGGTCA
CAAGGTGCTGCTTTTTTCACAAATGACAAGCATGTTGGACATTTTGATGGATTACTGCCATCTCAGAGATTTCAACTTCAGCAGGCTTGA
TGGGTCCATGTCTTACTCAGAGAGAGAAAAAAACATGCACAGCTTCAACACGGATCCAGAGGTGTTTATCTTCTTAGTGAGTACACGAGC
TGGTGGCCTGGGCATTAATCTGACTGCAGCAGATACAGTTATCATTTATGATAGTGATTGGAACCCCCAGTCGGATCTTCAGGCCCAGGA
TAGATGTCATAGAATTGGTCAGACAAAGCCAGTTGTTGTTTATCGCCTTGTTACAGCAAATACTATCGATCAGAAAATTGTGGAAAGAGC
AGCTGCTAAAAGGAAACTGGAAAAGTTGATCATCCATAAAAATCATTTCAAAGGTGGTCAGTCTGGATTAAATCTGTCTAAGAATTTCTT
AGATCCTAAGGAATTAATGGAATTATTAAAATCTAGAGATTATGAAAGGGAAATAAAAGGATCAAGAGAGAAGGTCATTAGTGATAAAGA
TCTAGAGTTGTTGTTAGATCGAAGTGATCTTATTGATCAAATGAATGCTTCAGGACCAATTAAAGAGAAGATGGGGATATTCAAGATATT
AGAAAATTCTGAAGATTCCAGTCCTGAATGTTTGTTTTAAAGTGGAGCTCAAGAATAGCTTTTAAAAGTTCTTATTTACATCTAGTGATT
TCCCTGTATTGGGTTTGAAATACTGATTGTCCACTTCACCTTTTTTATTATATCAGTTGACATGTAACTAGTACCATGCGTACTTAAATA
GATGGTAATTTTCTGAGCCTTACCAAGAACAAAGAAGTATCCATATTAAGTTTAGATTTTCAGTTAATTTTTGAGACTGAGTAGTATTCT
TGGATACAGGCTGATGTGTACTTAACCACTTCCAGATTTATACAGTCTTCCTGTGGAAGTTTAGTAAATGTCTTTTTCCCTCCTTTCTTC
TAGTAATGCAGTTCATGGGCTTTAGGTACTTCAGTTATGAAGTAGGCTTTTCATGGGGAGAGATTGGGATTATGCTCTCTGTTGTTTAAG

>21045_21045_1_CYP2C18-HELLS_CYP2C18_chr10_96466717_ENST00000285979_HELLS_chr10_96331145_ENST00000348459_length(amino acids)=966AA_BP=273
MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQLDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGYEAVKEALIDH
GEEFSGRGSFPVAEKVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTNASPCDPTFILGCAPCNVICS
VIFHDRFDYKDQRFLNLMEKFNENLRILSSPWIQVCNNFPALIDYLPGSHNKIAENFAYIKSYVLERIKEHQESLDMNSARDFIDCFLIK
MEQEILSVAKKNKKENEDENSSSTNLCVEDLQKNKDSNSIIKDRLSETVRQNTKFFFDPVRKCNGQPVPFQQPKHFTGGVMRWYQVEGME
WLRMLWENGINGILADEMGLGKTVQCIATIALMIQRGVPGPFLVCGPLSTLPNWMAEFKRFTPDIPTMLYHGTQEERQKLVRNIYKRKGT
LQIHPVVITSFEIAMRDRNALQHCYWKYLIVDEGHRIKNMKCRLIRELKRFNADNKLLLTGTPLQNNLSELWSLLNFLLPDVFDDLKSFE
SWFDITSLSETAEDIIAKEREQNVLHMLHQILTPFLLRRLKSDVALEVPPKREVVVYAPLSKKQEIFYTAIVNRTIANMFGSSEKETIEL
SPTGRPKRRTRKSINYSKIDDFPNELEKLISQIQPEVDRERAVVEVNIPVESEVNLKLQNIMMLLRKCCNHPYLIEYPIDPVTQEFKIDE
ELVTNSGKFLILDRMLPELKKRGHKVLLFSQMTSMLDILMDYCHLRDFNFSRLDGSMSYSEREKNMHSFNTDPEVFIFLVSTRAGGLGIN
LTAADTVIIYDSDWNPQSDLQAQDRCHRIGQTKPVVVYRLVTANTIDQKIVERAAAKRKLEKLIIHKNHFKGGQSGLNLSKNFLDPKELM

--------------------------------------------------------------
>21045_21045_2_CYP2C18-HELLS_CYP2C18_chr10_96466717_ENST00000285979_HELLS_chr10_96331145_ENST00000371332_length(transcript)=3238nt_BP=1018nt
GGCACCGGAAAGAACAAGAAAAAAGAACACCTTATTTTTATCTTCTTCAGTGAGCCAATGTTCATTCAAAAGAGAGATTAAAGTGCTTTT
TGCTGACTAGTCACAGTCAGAGTCAGAATCACAGGTGGATTAGTAGGGAGTGTTATAAAAGCCTTGAAGTGAAAGCCCGCAGTTGTCTTA
CTAAGAAGAGAAGCCTTCAATGGATCCAGCTGTGGCTCTGGTGCTCTGTCTCTCCTGTTTGTTTCTCCTTTCACTCTGGAGGCAGAGCTC
TGGAAGAGGGAGGCTCCCGTCTGGCCCCACTCCTCTCCCGATTATTGGAAATATCCTGCAGTTAGATGTTAAGGACATGAGCAAATCCTT
AACCAATTTCTCAAAAGTCTATGGCCCTGTGTTCACTGTGTATTTTGGCCTGAAGCCCATTGTGGTGTTGCATGGATATGAAGCAGTGAA
GGAGGCCCTGATTGATCATGGAGAGGAGTTTTCTGGAAGAGGAAGTTTTCCAGTGGCTGAAAAAGTTAACAAAGGACTTGGAATCCTTTT
CAGCAATGGAAAGAGATGGAAGGAGATCCGGCGTTTCTGCCTCATGACTCTGCGGAATTTTGGGATGGGGAAGAGGAGCATCGAGGACCG
TGTTCAAGAGGAAGCCCGCTGCCTTGTGGAGGAGTTGAGAAAAACCAATGCCTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCC
CTGCAATGTGATCTGCTCTGTTATTTTCCATGATCGATTTGATTATAAAGATCAGAGGTTTCTTAACTTGATGGAAAAATTCAATGAAAA
CCTCAGGATTCTGAGCTCTCCATGGATCCAGGTCTGCAATAATTTCCCTGCTCTCATCGATTATCTCCCAGGAAGTCATAATAAAATAGC
TGAAAATTTTGCTTACATTAAAAGTTATGTATTGGAGAGAATAAAAGAACATCAAGAATCCCTGGACATGAACAGTGCTCGGGACTTTAT
TGATTGTTTCCTGATCAAAATGGAACAGGAAATTTTGTCTGTGGCTAAAAAAAATAAAAAGGAGAATGAGGATGAAAACTCCTCCTCTAC
TAATCTCTGTGTGGAAGATCTTCAGAAAAATAAAGATTCGAATAGTATAATTAAAGATAGATTGTCTGAAACGGTTAGGCAGAATACTAA
ATTCTTTTTTGACCCAGTCCGGAAGTGTAATGGTCAGCCAGTACCTTTTCAACAACCAAAGCACTTCACTGGAGGAGTGATGCGATGGTA
CCAAGTAGAAGGCATGGAATGGCTTAGGATGCTTTGGGAAAATGGAATTAATGGCATTTTAGCAGATGAAATGGGATTGGGTAAGACAGT
TCAGTGCATTGCTACTATTGCATTGATGATTCAGAGAGGAGTACCAGGACCTTTTCTTGTCTGTGGCCCTTTGTCTACACTTCCTAACTG
GATGGCTGAATTCAAAAGATTTACACCAGATATCCCTACAATGTTATATCATGGAACCCAGGAGGAACGTCAAAAATTGGTAAGAAATAT
TTACAAACGGAAAGGGACTTTGCAGATTCATCCTGTGGTAATCACGTCATTTGAAATAGCCATGAGAGACCGAAATGCGTTACAGCATTG
CTATTGGAAATACTTAATAGTAGATGAAGGACACAGGATTAAGAATATGAAGTGCCGTCTAATCAGGGAGTTAAAACGATTCAATGCTGA
TAACAAACTTCTTTTGACTGGTACTCCCTTGCAAAACAATTTATCAGAACTTTGGTCATTGCTAAACTTTTTGTTGCCAGATGTATTTGA
TGACTTGAAAAGCTTTGAGTCTTGGTTTGACATCACTAGTCTTTCTGAAACTGCTGAAGATATTATTGCTAAAGAAAGAGAACAGAATGT
ATTGCATATGCTGCACCAGGAAAGAATTCCTAGAATGTATGTGTCAGAGTTTACAGATGAGGGCTTCTTTGAAGGCAAATTGCCCTCCAG
AAAAGATTTATATGATATACGTCCATATGAAAATACTTATTTACTCAAGCTTCATACCAATTTTGAGATTTTAACACCTTTCTTATTGAG
AAGACTGAAGTCTGATGTTGCTCTTGAAGTTCCTCCTAAACGAGAAGTAGTCGTTTATGCTCCACTTTCAAAGAAGCAGGAGATCTTTTA
TACAGCCATTGTGAACCGTACAATTGCAAACATGTTTGGATCCAGTGAGAAAGAAACAATTGAGTTAAGTCCTACTGGTCGACCAAAACG
ACGAACTAGAAAATCAATAAATTACAGCAAAATAGATGATTTCCCTAATGAATTGGAAAAACTGATCAGTCAAATACAGCCAGAGGTGGA
CCGAGAAAGAGCTGTTGTGGAAGTGAATATCCCTGTAGAATCTGAAGTTAATCTGAAGCTGCAGAATATAATGATGCTACTTCGTAAATG
TTGTAATCATCCATATTTGATTGAATATCCTATAGACCCTGTTACACAAGAATTTAAGATCGATGAAGAATTGGTAACAAATTCTGGGAA
GTTCTTGATTTTGGATCGAATGCTGCCAGAACTAAAAAAAAGAGGTCACAAGGTGCTGCTTTTTTCACAAATGACAAGCATGTTGGACAT
TTTGATGGATTACTGCCATCTCAGAGATTTCAACTTCAGCAGGCTTGATGGGTCCATGTCTTACTCAGAGAGAGAAAAAAACATGCACAG
CTTCAACACGGATCCAGAGGTGTTTATCTTCTTAGTGAGTACACGAGCTGGTGGCCTGGGCATTAATCTGACTGCAGCAGATACAGTTAT
CATTTATGATAGTGATTGGAACCCCCAGTCGGATCTTCAGGCCCAGGATAGATGTCATAGAATTGGTCAGACAAAGCCAGTTGTTGTTTA
TCGCCTTGTTACAGCAAATACTATCGATCAGAAAATTGTGGAAAGAGCAGCTGCTAAAAGGAAACTGGAAAAGTTGATCATCCATAAAAA
TCATTTCAAAGGTGGTCAGTCTGGATTAAATCTGTCTAAGAATTTCTTAGATCCTAAGGAATTAATGGAATTATTAAAATCTAGAGATTA
TGAAAGGGAAATAAAAGGATCAAGAGAGAAGGTCATTAGTGATAAAGATCTAGAGTTGTTGTTAGATCGAAGTGATCTTATTGATCAAAT

>21045_21045_2_CYP2C18-HELLS_CYP2C18_chr10_96466717_ENST00000285979_HELLS_chr10_96331145_ENST00000371332_length(amino acids)=1013AA_BP=273
MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQLDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGYEAVKEALIDH
GEEFSGRGSFPVAEKVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTNASPCDPTFILGCAPCNVICS
VIFHDRFDYKDQRFLNLMEKFNENLRILSSPWIQVCNNFPALIDYLPGSHNKIAENFAYIKSYVLERIKEHQESLDMNSARDFIDCFLIK
MEQEILSVAKKNKKENEDENSSSTNLCVEDLQKNKDSNSIIKDRLSETVRQNTKFFFDPVRKCNGQPVPFQQPKHFTGGVMRWYQVEGME
WLRMLWENGINGILADEMGLGKTVQCIATIALMIQRGVPGPFLVCGPLSTLPNWMAEFKRFTPDIPTMLYHGTQEERQKLVRNIYKRKGT
LQIHPVVITSFEIAMRDRNALQHCYWKYLIVDEGHRIKNMKCRLIRELKRFNADNKLLLTGTPLQNNLSELWSLLNFLLPDVFDDLKSFE
SWFDITSLSETAEDIIAKEREQNVLHMLHQERIPRMYVSEFTDEGFFEGKLPSRKDLYDIRPYENTYLLKLHTNFEILTPFLLRRLKSDV
ALEVPPKREVVVYAPLSKKQEIFYTAIVNRTIANMFGSSEKETIELSPTGRPKRRTRKSINYSKIDDFPNELEKLISQIQPEVDRERAVV
EVNIPVESEVNLKLQNIMMLLRKCCNHPYLIEYPIDPVTQEFKIDEELVTNSGKFLILDRMLPELKKRGHKVLLFSQMTSMLDILMDYCH
LRDFNFSRLDGSMSYSEREKNMHSFNTDPEVFIFLVSTRAGGLGINLTAADTVIIYDSDWNPQSDLQAQDRCHRIGQTKPVVVYRLVTAN
TIDQKIVERAAAKRKLEKLIIHKNHFKGGQSGLNLSKNFLDPKELMELLKSRDYEREIKGSREKVISDKDLELLLDRSDLIDQMNASGPI

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>21045_21045_3_CYP2C18-HELLS_CYP2C18_chr10_96466717_ENST00000285979_HELLS_chr10_96331145_ENST00000394045_length(transcript)=3282nt_BP=1018nt
GGCACCGGAAAGAACAAGAAAAAAGAACACCTTATTTTTATCTTCTTCAGTGAGCCAATGTTCATTCAAAAGAGAGATTAAAGTGCTTTT
TGCTGACTAGTCACAGTCAGAGTCAGAATCACAGGTGGATTAGTAGGGAGTGTTATAAAAGCCTTGAAGTGAAAGCCCGCAGTTGTCTTA
CTAAGAAGAGAAGCCTTCAATGGATCCAGCTGTGGCTCTGGTGCTCTGTCTCTCCTGTTTGTTTCTCCTTTCACTCTGGAGGCAGAGCTC
TGGAAGAGGGAGGCTCCCGTCTGGCCCCACTCCTCTCCCGATTATTGGAAATATCCTGCAGTTAGATGTTAAGGACATGAGCAAATCCTT
AACCAATTTCTCAAAAGTCTATGGCCCTGTGTTCACTGTGTATTTTGGCCTGAAGCCCATTGTGGTGTTGCATGGATATGAAGCAGTGAA
GGAGGCCCTGATTGATCATGGAGAGGAGTTTTCTGGAAGAGGAAGTTTTCCAGTGGCTGAAAAAGTTAACAAAGGACTTGGAATCCTTTT
CAGCAATGGAAAGAGATGGAAGGAGATCCGGCGTTTCTGCCTCATGACTCTGCGGAATTTTGGGATGGGGAAGAGGAGCATCGAGGACCG
TGTTCAAGAGGAAGCCCGCTGCCTTGTGGAGGAGTTGAGAAAAACCAATGCCTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCC
CTGCAATGTGATCTGCTCTGTTATTTTCCATGATCGATTTGATTATAAAGATCAGAGGTTTCTTAACTTGATGGAAAAATTCAATGAAAA
CCTCAGGATTCTGAGCTCTCCATGGATCCAGGTCTGCAATAATTTCCCTGCTCTCATCGATTATCTCCCAGGAAGTCATAATAAAATAGC
TGAAAATTTTGCTTACATTAAAAGTTATGTATTGGAGAGAATAAAAGAACATCAAGAATCCCTGGACATGAACAGTGCTCGGGACTTTAT
TGATTGTTTCCTGATCAAAATGGAACAGGAAATTTTGTCTGTGGCTAAAAAAAATAAAAAGGAGAATGAGGATGAAAACTCCTCCTCTAC
TAATCTCTGTGTGGAAGATCTTCAGAAAAATAAAGATTCGAATAGTATAATTAAAGATAGATTGTCTGAAACGGTTAGGCAGAATACTAA
ATTCTTTTTTGACCCAGTCCGGAAGTGTAATGGTCAGCCAGTACCTTTTCAACAACCAAAGCACTTCACTGGAGGAGTGATGCGATGGTA
CCAAGTAGAAGGCATGGAATGGCTTAGGATGCTTTGGGAAAATGGAATTAATGGCATTTTAGCAGATGAAATGGGATTGGGTAAGACAGT
TCAGTGCATTGCTACTATTGCATTGATGATTCAGAGAGGAGTACCAGGACCTTTTCTTGTCTGTGGCCCTTTGTCTACACTTCCTAACTG
GATGGCTGAATTCAAAAGATTTACACCAGATATCCCTACAATGTTATATCATGGAACCCAGGAGGAACGTCAAAAATTGGTAAGAAATAT
TTACAAACGGAAAGGGACTTTGCAGATTCATCCTGTGGTAATCACGTCATTTGAAATAGCCATGAGAGACCGAAATGCGTTACAGATTTT
AACACCTTTCTTATTGAGAAGACTGAAGTCTGATGTTGCTCTTGAAGTTCCTCCTAAACGAGAAGTAGTCGTTTATGCTCCACTTTCAAA
GAAGCAGGAGATCTTTTATACAGCCATTGTGAACCGTACAATTGCAAACATGTTTGGATCCAGTGAGAAAGAAACAATTGAGTTAAGTCC
TACTGGTCGACCAAAACGACGAACTAGAAAATCAATAAATTACAGCAAAATAGATGATTTCCCTAATGAATTGGAAAAACTGATCAGTCA
AATACAGCCAGAGGTGGACCGAGAAAGAGCTGTTGTGGAAGTGAATATCCCTGTAGAATCTGAAGTTAATCTGAAGCTGCAGAATATAAT
GATGCTACTTCGTAAATGTTGTAATCATCCATATTTGATTGAATATCCTATAGACCCTGTTACACAAGAATTTAAGATCGATGAAGAATT
GGTAACAAATTCTGGGAAGTTCTTGATTTTGGATCGAATGCTGCCAGAACTAAAAAAAAGAGGTCACAAGGTGCTGCTTTTTTCACAAAT
GACAAGCATGTTGGACATTTTGATGGATTACTGCCATCTCAGAGATTTCAACTTCAGCAGGCTTGATGGGTCCATGTCTTACTCAGAGAG
AGAAAAAAACATGCACAGCTTCAACACGGATCCAGAGGTGTTTATCTTCTTAGTGAGTACACGAGCTGGTGGCCTGGGCATTAATCTGAC
TGCAGCAGATACAGTTATCATTTATGATAGTGATTGGAACCCCCAGTCGGATCTTCAGGCCCAGGATAGATGTCATAGAATTGGTCAGAC
AAAGCCAGTTGTTGTTTATCGCCTTGTTACAGCAAATACTATCGATCAGAAAATTGTGGAAAGAGCAGCTGCTAAAAGGAAACTGGAAAA
GTTGATCATCCATAAAAATCATTTCAAAGGTGGTCAGTCTGGATTAAATCTGTCTAAGAATTTCTTAGATCCTAAGGAATTAATGGAATT
ATTAAAATCTAGAGATTATGAAAGGGAAATAAAAGGATCAAGAGAGAAGGTCATTAGTGATAAAGATCTAGAGTTGTTGTTAGATCGAAG
TGATCTTATTGATCAAATGAATGCTTCAGGACCAATTAAAGAGAAGATGGGGATATTCAAGATATTAGAAAATTCTGAAGATTCCAGTCC
TGAATGTTTGTTTTAAAGTGGAGCTCAAGAATAGCTTTTAAAAGTTCTTATTTACATCTAGTGATTTCCCTGTATTGGGTTTGAAATACT
GATTGTCCACTTCACCTTTTTTATTATATCAGTTGACATGTAACTAGTACCATGCGTACTTAAATAGATGGTAATTTTCTGAGCCTTACC
AAGAACAAAGAAGTATCCATATTAAGTTTAGATTTTCAGTTAATTTTTGAGACTGAGTAGTATTCTTGGATACAGGCTGATGTGTACTTA
ACCACTTCCAGATTTATACAGTCTTCCTGTGGAAGTTTAGTAAATGTCTTTTTCCCTCCTTTCTTCTAGTAATGCAGTTCATGGGCTTTA
GGTACTTCAGTTATGAAGTAGGCTTTTCATGGGGAGAGATTGGGATTATGCTCTCTGTTGTTTAAGAAACTGTTTGATTTTAGAGTCTAT

>21045_21045_3_CYP2C18-HELLS_CYP2C18_chr10_96466717_ENST00000285979_HELLS_chr10_96331145_ENST00000394045_length(amino acids)=868AA_BP=273
MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQLDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGYEAVKEALIDH
GEEFSGRGSFPVAEKVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTNASPCDPTFILGCAPCNVICS
VIFHDRFDYKDQRFLNLMEKFNENLRILSSPWIQVCNNFPALIDYLPGSHNKIAENFAYIKSYVLERIKEHQESLDMNSARDFIDCFLIK
MEQEILSVAKKNKKENEDENSSSTNLCVEDLQKNKDSNSIIKDRLSETVRQNTKFFFDPVRKCNGQPVPFQQPKHFTGGVMRWYQVEGME
WLRMLWENGINGILADEMGLGKTVQCIATIALMIQRGVPGPFLVCGPLSTLPNWMAEFKRFTPDIPTMLYHGTQEERQKLVRNIYKRKGT
LQIHPVVITSFEIAMRDRNALQILTPFLLRRLKSDVALEVPPKREVVVYAPLSKKQEIFYTAIVNRTIANMFGSSEKETIELSPTGRPKR
RTRKSINYSKIDDFPNELEKLISQIQPEVDRERAVVEVNIPVESEVNLKLQNIMMLLRKCCNHPYLIEYPIDPVTQEFKIDEELVTNSGK
FLILDRMLPELKKRGHKVLLFSQMTSMLDILMDYCHLRDFNFSRLDGSMSYSEREKNMHSFNTDPEVFIFLVSTRAGGLGINLTAADTVI
IYDSDWNPQSDLQAQDRCHRIGQTKPVVVYRLVTANTIDQKIVERAAAKRKLEKLIIHKNHFKGGQSGLNLSKNFLDPKELMELLKSRDY

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Top

Fusion Gene PPI Analysis for CYP2C18-HELLS

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs for CYP2C18-HELLS

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

Related Diseases for CYP2C18-HELLS

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source